首页> 外文期刊>American journal of medical genetics, Part A >Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: data from a multi-hospital healthcare system.
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Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: data from a multi-hospital healthcare system.

机译:患有18三体和13三体的新生儿在出生后第一周的血液学异常:来自多医院医疗系统的数据。

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Limited information is available on the expected hematological values of newborn infants with trisomy 18 or trisomy 13 syndromes. About 50% of patients with these conditions survive beyond the first week of life, and some have complete blood counts (CBCs) obtained to assist in medical management. We tabulated all CBC data that had been obtained on patients with either trisomy, during their first week of life, using data from an 18 hospital healthcare system. We posited that describing the CBC findings would assist clinicians in providing care for these patients who survive beyond the first days. During the period of January 1, 2001 through December 31, 2006, 174,480 live births were recorded at the 18 hospitals. Trisomy 18 was recognized in 28 (prevalence estimate, 1 in 6,231) and trisomy 13 in 22 (prevalence estimate, 1 in 7,931). Twenty-four of these had one or more CBCs obtained before the seventh day. Thrombocytopenia was the most common hematological abnormality detected, occurring in 83% of thosewith trisomy 18 and 75% of those with trisomy 13. Three patients with trisomy 18, and 1 with trisomy 13, received platelet transfusions. The second most commonly detected abnormality was neutrophilia. Eighty-three percent of neonates with trisomy 13, and 42% with trisomy 18, had neutrophil concentrations above the upper limit of normal for age. Abnormal erythrocyte values were the third most common hematological abnormalities detected. These were much more common among neonates with trisomy 18. Only 43% of patients with trisomy 18 had normal erythrocyte values; anemia was detected in 40% and polycythemia in 17%. Only one neonate with trisomy 13 had abnormal erythrocyte findings (polycythemia). These data should assist clinicians caring for neonates with trisomy 18 or 13, demonstrating how common hematological abnormalities exist among these patients.
机译:关于患有18三体综合征或13三体综合征的新生儿的预期血液学价值的信息有限。患有此类疾病的患者中约有50%会在生命的第一周后存活,并且有些患者具有全血细胞计数(CBC)以帮助进行医疗管理。我们使用来自18家医院医疗保健系统的数据,列出了所有患有三体综合征的患者在其生命的第一周内获得的所有CBC数据。我们假设描述CBC的发现将有助于临床医生为这些在第一天以后存活的患者提供护理。在2001年1月1日至2006年12月31日期间,这18家医院共记录了174,480例活产婴儿。在28号三倍体中被识别(患病率估计为6,231分之一),在22号三色体中被识别的患病率(7,931分中的1分)。其中的二十四个在第七天之前获得了一个或多个CBC。血小板减少症是最常见的血液学异常,发生在18三体性患者中的83%和13三体性患者中的75%发生了三例18三体性患者和1 13三体性患者。第二个最常见的异常是嗜中性粒细胞增多。 13三体症的新生儿中有83%,18三体症的新生儿中有42%的中性粒细胞浓度高于正常年龄上限。红细胞值异常是检测到的第三大最常见血液学异常。这些在18三体症的新生儿中更为常见。只有43%的18三体症患者的红细胞值正常;而在18三体症的新生儿中,红细胞值正常。检出贫血的比例为40%,红细胞增多症的比例为17%。只有一名13三体性新生儿具有异常的红细胞发现(红细胞增多症)。这些数据应有助于临床医生照顾18或13号三体症的新生儿,证明这些患者中常见的血液学异常情况如何。

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